Diagnostic Code Ambiguity and Misclassification of Adults With Spinal Muscular Atrophy: Single-Center Chart Review
Abstract
Unlabelled: In a single US health system, fewer than one in three adults flagged by spinal muscular atrophy-associated diagnostic codes had molecularly confirmed spinal muscular atrophy (positive predictive value 27%), with the majority miscoded across clinically distinct categories.
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